Canonical Allele Identifier: CA131087974

Gene: GABRA1

Linked Data

• dbSNP Id: rs926256497
• gnomAD v2: 5-161324812-A-T
• gnomAD v3: 5-161897806-A-T
• gnomAD v4: 5-161897806-A-T
• MyVariant Identifiers: chr5:g.161324812A>T (hg19) ; chr5:g.161897806A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161897806A>T , CM000667.2:g.161897806A>T	GRCh38
NC_000005.9:g.161324812A>T , CM000667.1:g.161324812A>T	GRCh37
NC_000005.8:g.161257390A>T	NCBI36
NG_011548.1:g.55616A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.*384A>T MANE Select	ENSP00000377517.4:n.*384A>T
ENST00000635916.2:n.4598A>T
ENST00000636340.1:c.*1604A>T	ENSP00000490002.1:n.*1604A>T
ENST00000636408.1:n.1559A>T
ENST00000636573.1:c.*384A>T	ENSP00000490320.1:n.*384A>T
ENST00000637044.1:c.*1529A>T	ENSP00000490684.1:n.*1529A>T
ENST00000638112.1:c.*384A>T	ENSP00000489839.1:n.*384A>T
ENST00000638159.1:c.*384A>T	ENSP00000490360.1:n.*384A>T
ENST00000393943.9:c.*384A>T	ENSP00000377517.4:n.*384A>T
ENST00000428797.7:c.*384A>T	ENSP00000393097.2:n.*384A>T
ENST00000437025.6:c.*384A>T	ENSP00000415441.2:n.*384A>T
NM_000806.5:c.*384A>T	NP_000797.2:n.*384A>T
NM_001127643.1:c.*384A>T	NP_001121115.1:n.*384A>T
NM_001127644.1:c.*384A>T	NP_001121116.1:n.*384A>T
NM_001127645.1:c.*384A>T	NP_001121117.1:n.*384A>T
NM_001127648.1:c.*384A>T	NP_001121120.1:n.*384A>T
NM_001127644.2:c.*384A>T MANE Select	NP_001121116.1:n.*384A>T
NM_001127643.2:c.*384A>T	NP_001121115.1:n.*384A>T
NM_001127645.2:c.*384A>T	NP_001121117.1:n.*384A>T
NM_001127648.2:c.*384A>T	NP_001121120.1:n.*384A>T